| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31261723_31261797del | CA2580093289 | NF1 | c.392_466del (p.Leu131_Trp155del) c.4572_4646del (p.Val1525_Ala1549del) n.696_770del c.581_655del n.1235_1309del c.4620_4694del (p.Val1541_Ala1565del) c.4590_4664del (p.Val1531_Ala1555del) c.4527_4601del (p.Val1510_Ala1534del) c.3525_3599del (p.Val1176_Ala1200del) n.3063_3137del c.4629_4703del (p.Val1544_Ala1568del) c.4581_4655del (p.Val1528_Ala1552del) c.4557_4631del (p.Val1520_Ala1544del) c.4617_4691del (p.Val1540_Ala1564del) | ClinVar |
| 17 | g.31261730_31261731delinsAG | CA2255577394 | NF1 | c.399_400delinsAG (p.Glu133=) c.4579_4580delinsAG (p.Arg1527=) n.703_704delinsAG c.588_589delinsAG n.1242_1243delinsAG c.4627_4628delinsAG (p.Arg1543=) c.4597_4598delinsAG (p.Arg1533=) c.4534_4535delinsAG (p.Arg1512=) c.3532_3533delinsAG (p.Arg1178=) c.1113_1114delinsAG c.1050_1051delinsAG n.3070_3071delinsAG c.4636_4637delinsAG (p.Arg1546=) c.4588_4589delinsAG (p.Arg1530=) c.4564_4565delinsAG (p.Arg1522=) c.4624_4625delinsAG (p.Arg1542=) | |
| 17 | g.31261731del | CA16615646 | NF1 | c.400del (p.Asp134ThrfsTer4) c.4580del (p.Arg1527AsnfsTer?) n.704del c.589del n.1243del c.4628del (p.Arg1543AsnfsTer?) c.4598del (p.Arg1533AsnfsTer?) c.4535del (p.Arg1512AsnfsTer?) c.3533del (p.Arg1178AsnfsTer?) c.1114del c.1051del n.3071del c.4637del (p.Arg1546AsnfsTer?) c.4589del (p.Arg1530AsnfsTer?) c.4565del (p.Arg1522AsnfsTer?) c.4625del (p.Arg1542AsnfsTer?) | ClinVar dbSNP |
| 17 | g.31261731G>A | CA399000159 | NF1 | c.400G>A (p.Asp134Asn) c.4580G>A (p.Arg1527Lys) n.704G>A c.589G>A n.1243G>A c.4628G>A (p.Arg1543Lys) c.4598G>A (p.Arg1533Lys) c.4535G>A (p.Arg1512Lys) c.3533G>A (p.Arg1178Lys) c.1114G>A c.1051G>A n.3071G>A c.4637G>A (p.Arg1546Lys) c.4589G>A (p.Arg1530Lys) c.4565G>A (p.Arg1522Lys) c.4625G>A (p.Arg1542Lys) | ClinVar dbSNP |
| 17 | g.31261731G>C | CA399000161 | NF1 | c.400G>C (p.Asp134His) c.4580G>C (p.Arg1527Thr) n.704G>C c.589G>C n.1243G>C c.4628G>C (p.Arg1543Thr) c.4598G>C (p.Arg1533Thr) c.4535G>C (p.Arg1512Thr) c.3533G>C (p.Arg1178Thr) c.1114G>C c.1051G>C n.3071G>C c.4637G>C (p.Arg1546Thr) c.4589G>C (p.Arg1530Thr) c.4565G>C (p.Arg1522Thr) c.4625G>C (p.Arg1542Thr) | dbSNP |
| 17 | g.31261731G>T | CA399000162 | NF1 | c.400G>T (p.Asp134Tyr) c.4580G>T (p.Arg1527Ile) n.704G>T c.589G>T n.1243G>T c.4628G>T (p.Arg1543Ile) c.4598G>T (p.Arg1533Ile) c.4535G>T (p.Arg1512Ile) c.3533G>T (p.Arg1178Ile) c.1114G>T c.1051G>T n.3071G>T c.4637G>T (p.Arg1546Ile) c.4589G>T (p.Arg1530Ile) c.4565G>T (p.Arg1522Ile) c.4625G>T (p.Arg1542Ile) | |
| 17 | g.31261731_31261734dup | CA2576223359 | NF1 | c.400_403dup (p.Asp135GlyfsTer?) c.4580_4583dup (p.Pro1529ThrfsTer4) n.704_707dup c.589_592dup n.1243_1246dup c.4628_4631dup (p.Pro1545ThrfsTer4) c.4598_4601dup (p.Pro1535ThrfsTer4) c.4535_4538dup (p.Pro1514ThrfsTer4) c.3533_3536dup (p.Pro1180ThrfsTer4) c.1114_1117dup c.1051_1054dup n.3071_3074dup c.4637_4640dup (p.Pro1548ThrfsTer4) c.4589_4592dup (p.Pro1532ThrfsTer4) c.4565_4568dup (p.Pro1524ThrfsTer4) c.4625_4628dup (p.Pro1544ThrfsTer4) | |
| 17 | g.31261732A= | CA2255577396 | NF1 | c.401A= (p.Asp134=) c.4581A= (p.Arg1527=) n.705A= c.590A= n.1244A= c.4629A= (p.Arg1543=) c.4599A= (p.Arg1533=) c.4536A= (p.Arg1512=) c.3534A= (p.Arg1178=) c.1115A= c.1052A= n.3072A= c.4638A= (p.Arg1546=) c.4590A= (p.Arg1530=) c.4566A= (p.Arg1522=) c.4626A= (p.Arg1542=) | |
| 17 | g.31261732A>C | CA399000164 | NF1 | c.401A>C (p.Asp134Ala) c.4581A>C (p.Arg1527Ser) n.705A>C c.590A>C n.1244A>C c.4629A>C (p.Arg1543Ser) c.4599A>C (p.Arg1533Ser) c.4536A>C (p.Arg1512Ser) c.3534A>C (p.Arg1178Ser) c.1115A>C c.1052A>C n.3072A>C c.4638A>C (p.Arg1546Ser) c.4590A>C (p.Arg1530Ser) c.4566A>C (p.Arg1522Ser) c.4626A>C (p.Arg1542Ser) | |
| 17 | g.31261732A>G | CA499233841 | NF1 | c.401A>G (p.Asp134Gly) c.4581A>G (p.Arg1527=) n.705A>G c.590A>G n.1244A>G c.4629A>G (p.Arg1543=) c.4599A>G (p.Arg1533=) c.4536A>G (p.Arg1512=) c.3534A>G (p.Arg1178=) c.1115A>G c.1052A>G n.3072A>G c.4638A>G (p.Arg1546=) c.4590A>G (p.Arg1530=) c.4566A>G (p.Arg1522=) c.4626A>G (p.Arg1542=) | ClinVar dbSNP |
| 17 | g.31261732A>T | CA399000166 | NF1 | c.401A>T (p.Asp134Val) c.4581A>T (p.Arg1527Ser) n.705A>T c.590A>T n.1244A>T c.4629A>T (p.Arg1543Ser) c.4599A>T (p.Arg1533Ser) c.4536A>T (p.Arg1512Ser) c.3534A>T (p.Arg1178Ser) c.1115A>T c.1052A>T n.3072A>T c.4638A>T (p.Arg1546Ser) c.4590A>T (p.Arg1530Ser) c.4566A>T (p.Arg1522Ser) c.4626A>T (p.Arg1542Ser) | ClinVar dbSNP |
| 17 | g.31261733C>A | CA499233842 | NF1 | c.402C>A (p.Asp134Glu) c.4582C>A (p.Arg1528=) n.706C>A c.591C>A n.1245C>A c.4630C>A (p.Arg1544=) c.4600C>A (p.Arg1534=) c.4537C>A (p.Arg1513=) c.3535C>A (p.Arg1179=) c.1116C>A c.1053C>A n.3073C>A c.4639C>A (p.Arg1547=) c.4591C>A (p.Arg1531=) c.4567C>A (p.Arg1523=) c.4627C>A (p.Arg1543=) | dbSNP |
| 17 | g.31261733C= | CA2255577397 | NF1 | c.402C= (p.Asp134=) c.4582C= (p.Arg1528=) n.706C= c.591C= n.1245C= c.4630C= (p.Arg1544=) c.4600C= (p.Arg1534=) c.4537C= (p.Arg1513=) c.3535C= (p.Arg1179=) c.1116C= c.1053C= n.3073C= c.4639C= (p.Arg1547=) c.4591C= (p.Arg1531=) c.4567C= (p.Arg1523=) c.4627C= (p.Arg1543=) | |
| 17 | g.31261733C>G | CA399000168 | NF1 | c.402C>G (p.Asp134Glu) c.4582C>G (p.Arg1528Gly) n.706C>G c.591C>G n.1245C>G c.4630C>G (p.Arg1544Gly) c.4600C>G (p.Arg1534Gly) c.4537C>G (p.Arg1513Gly) c.3535C>G (p.Arg1179Gly) c.1116C>G c.1053C>G n.3073C>G c.4639C>G (p.Arg1547Gly) c.4591C>G (p.Arg1531Gly) c.4567C>G (p.Arg1523Gly) c.4627C>G (p.Arg1543Gly) | dbSNP |
| 17 | g.31261733C>T | CA350085 | NF1 | c.402C>T (p.Asp134=) c.4582C>T (p.Arg1528Ter) n.706C>T c.591C>T n.1245C>T c.4630C>T (p.Arg1544Ter) c.4600C>T (p.Arg1534Ter) c.4537C>T (p.Arg1513Ter) c.3535C>T (p.Arg1179Ter) c.1116C>T c.1053C>T n.3073C>T c.4639C>T (p.Arg1547Ter) c.4591C>T (p.Arg1531Ter) c.4567C>T (p.Arg1523Ter) c.4627C>T (p.Arg1543Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.31261734G>A | CA289353613 | NF1 | c.403G>A (p.Asp135Asn) c.4583G>A (p.Arg1528Gln) n.707G>A c.592G>A n.1246G>A c.4631G>A (p.Arg1544Gln) c.4601G>A (p.Arg1534Gln) c.4538G>A (p.Arg1513Gln) c.3536G>A (p.Arg1179Gln) c.1117G>A c.1054G>A n.3074G>A c.4640G>A (p.Arg1547Gln) c.4592G>A (p.Arg1531Gln) c.4568G>A (p.Arg1523Gln) c.4628G>A (p.Arg1543Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31261734G>C | CA399000172 | NF1 | c.403G>C (p.Asp135His) c.4583G>C (p.Arg1528Pro) n.707G>C c.592G>C n.1246G>C c.4631G>C (p.Arg1544Pro) c.4601G>C (p.Arg1534Pro) c.4538G>C (p.Arg1513Pro) c.3536G>C (p.Arg1179Pro) c.1117G>C c.1054G>C n.3074G>C c.4640G>C (p.Arg1547Pro) c.4592G>C (p.Arg1531Pro) c.4568G>C (p.Arg1523Pro) c.4628G>C (p.Arg1543Pro) | dbSNP |
| 17 | g.31261734G= | CA2255577398 | NF1 | c.403G= (p.Asp135=) c.4583G= (p.Arg1528=) n.707G= c.592G= n.1246G= c.4631G= (p.Arg1544=) c.4601G= (p.Arg1534=) c.4538G= (p.Arg1513=) c.3536G= (p.Arg1179=) c.1117G= c.1054G= n.3074G= c.4640G= (p.Arg1547=) c.4592G= (p.Arg1531=) c.4568G= (p.Arg1523=) c.4628G= (p.Arg1543=) | |
| 17 | g.31261734G>T | CA399000174 | NF1 | c.403G>T (p.Asp135Tyr) c.4583G>T (p.Arg1528Leu) n.707G>T c.592G>T n.1246G>T c.4631G>T (p.Arg1544Leu) c.4601G>T (p.Arg1534Leu) c.4538G>T (p.Arg1513Leu) c.3536G>T (p.Arg1179Leu) c.1117G>T c.1054G>T n.3074G>T c.4640G>T (p.Arg1547Leu) c.4592G>T (p.Arg1531Leu) c.4568G>T (p.Arg1523Leu) c.4628G>T (p.Arg1543Leu) | |
| 17 | g.31261735A= | CA2255577399 | NF1 | c.404A= (p.Asp135=) c.4584A= (p.Arg1528=) n.708A= c.593A= n.1247A= c.4632A= (p.Arg1544=) c.4602A= (p.Arg1534=) c.4539A= (p.Arg1513=) c.3537A= (p.Arg1179=) c.1118A= c.1055A= n.3075A= c.4641A= (p.Arg1547=) c.4593A= (p.Arg1531=) c.4569A= (p.Arg1523=) c.4629A= (p.Arg1543=) | |
| 17 | g.31261735A>C | CA499233843 | NF1 | c.404A>C (p.Asp135Ala) c.4584A>C (p.Arg1528=) n.708A>C c.593A>C n.1247A>C c.4632A>C (p.Arg1544=) c.4602A>C (p.Arg1534=) c.4539A>C (p.Arg1513=) c.3537A>C (p.Arg1179=) c.1118A>C c.1055A>C n.3075A>C c.4641A>C (p.Arg1547=) c.4593A>C (p.Arg1531=) c.4569A>C (p.Arg1523=) c.4629A>C (p.Arg1543=) | |
| 17 | g.31261735A>G | CA499233844 | NF1 | c.404A>G (p.Asp135Gly) c.4584A>G (p.Arg1528=) n.708A>G c.593A>G n.1247A>G c.4632A>G (p.Arg1544=) c.4602A>G (p.Arg1534=) c.4539A>G (p.Arg1513=) c.3537A>G (p.Arg1179=) c.1118A>G c.1055A>G n.3075A>G c.4641A>G (p.Arg1547=) c.4593A>G (p.Arg1531=) c.4569A>G (p.Arg1523=) c.4629A>G (p.Arg1543=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31261735A>T | CA499233845 | NF1 | c.404A>T (p.Asp135Val) c.4584A>T (p.Arg1528=) n.708A>T c.593A>T n.1247A>T c.4632A>T (p.Arg1544=) c.4602A>T (p.Arg1534=) c.4539A>T (p.Arg1513=) c.3537A>T (p.Arg1179=) c.1118A>T c.1055A>T n.3075A>T c.4641A>T (p.Arg1547=) c.4593A>T (p.Arg1531=) c.4569A>T (p.Arg1523=) c.4629A>T (p.Arg1543=) | ClinVar dbSNP |
| 17 | g.31261736C>A | CA399000175 | NF1 | c.405C>A (p.Asp135Glu) c.4585C>A (p.Pro1529Thr) n.709C>A c.594C>A n.1248C>A c.4633C>A (p.Pro1545Thr) c.4603C>A (p.Pro1535Thr) c.4540C>A (p.Pro1514Thr) c.3538C>A (p.Pro1180Thr) c.1119C>A c.1056C>A n.3076C>A c.4642C>A (p.Pro1548Thr) c.4594C>A (p.Pro1532Thr) c.4570C>A (p.Pro1524Thr) c.4630C>A (p.Pro1544Thr) | |
| 17 | g.31261736C>G | CA399000178 | NF1 | c.405C>G (p.Asp135Glu) c.4585C>G (p.Pro1529Ala) n.709C>G c.594C>G n.1248C>G c.4633C>G (p.Pro1545Ala) c.4603C>G (p.Pro1535Ala) c.4540C>G (p.Pro1514Ala) c.3538C>G (p.Pro1180Ala) c.1119C>G c.1056C>G n.3076C>G c.4642C>G (p.Pro1548Ala) c.4594C>G (p.Pro1532Ala) c.4570C>G (p.Pro1524Ala) c.4630C>G (p.Pro1544Ala) | dbSNP |
| 17 | g.31261736C>T | CA399000176 | NF1 | c.405C>T (p.Asp135=) c.4585C>T (p.Pro1529Ser) n.709C>T c.594C>T n.1248C>T c.4633C>T (p.Pro1545Ser) c.4603C>T (p.Pro1535Ser) c.4540C>T (p.Pro1514Ser) c.3538C>T (p.Pro1180Ser) c.1119C>T c.1056C>T n.3076C>T c.4642C>T (p.Pro1548Ser) c.4594C>T (p.Pro1532Ser) c.4570C>T (p.Pro1524Ser) c.4630C>T (p.Pro1544Ser) | dbSNP gnomAD v4 |
| 17 | g.31261737del | CA2697559749 | NF1 | c.406del (p.Leu136PhefsTer2) c.4586del (p.Pro1529LeufsTer?) n.710del c.595del n.1249del c.4634del (p.Pro1545LeufsTer?) c.4604del (p.Pro1535LeufsTer?) c.4541del (p.Pro1514LeufsTer?) c.3539del (p.Pro1180LeufsTer?) c.1120del c.1057del n.3077del c.4643del (p.Pro1548LeufsTer?) c.4595del (p.Pro1532LeufsTer?) c.4571del (p.Pro1524LeufsTer?) c.4631del (p.Pro1544LeufsTer?) | ClinVar |
| 17 | g.31261737C>A | CA399000180 | NF1 | c.406C>A (p.Leu136Ile) c.4586C>A (p.Pro1529His) n.710C>A c.595C>A n.1249C>A c.4634C>A (p.Pro1545His) c.4604C>A (p.Pro1535His) c.4541C>A (p.Pro1514His) c.3539C>A (p.Pro1180His) c.1120C>A c.1057C>A n.3077C>A c.4643C>A (p.Pro1548His) c.4595C>A (p.Pro1532His) c.4571C>A (p.Pro1524His) c.4631C>A (p.Pro1544His) | |
| 17 | g.31261737C>G | CA399000181 | NF1 | c.406C>G (p.Leu136Val) c.4586C>G (p.Pro1529Arg) n.710C>G c.595C>G n.1249C>G c.4634C>G (p.Pro1545Arg) c.4604C>G (p.Pro1535Arg) c.4541C>G (p.Pro1514Arg) c.3539C>G (p.Pro1180Arg) c.1120C>G c.1057C>G n.3077C>G c.4643C>G (p.Pro1548Arg) c.4595C>G (p.Pro1532Arg) c.4571C>G (p.Pro1524Arg) c.4631C>G (p.Pro1544Arg) | |
| 17 | g.31261737C>T | CA399000183 | NF1 | c.406C>T (p.Leu136Phe) c.4586C>T (p.Pro1529Leu) n.710C>T c.595C>T n.1249C>T c.4634C>T (p.Pro1545Leu) c.4604C>T (p.Pro1535Leu) c.4541C>T (p.Pro1514Leu) c.3539C>T (p.Pro1180Leu) c.1120C>T c.1057C>T n.3077C>T c.4643C>T (p.Pro1548Leu) c.4595C>T (p.Pro1532Leu) c.4571C>T (p.Pro1524Leu) c.4631C>T (p.Pro1544Leu) | |
| 17 | g.31261737_31261739del | CA2580093292 | NF1 | c.406_408del (p.Leu136del) c.4586_4588del (p.Pro1529_Phe1530delinsLeu) n.710_712del c.595_597del n.1249_1251del c.4634_4636del (p.Pro1545_Phe1546delinsLeu) c.4604_4606del (p.Pro1535_Phe1536delinsLeu) c.4541_4543del (p.Pro1514_Phe1515delinsLeu) c.3539_3541del (p.Pro1180_Phe1181delinsLeu) c.1120_1122del c.1057_1059del n.3077_3079del c.4643_4645del (p.Pro1548_Phe1549delinsLeu) c.4595_4597del (p.Pro1532_Phe1533delinsLeu) c.4571_4573del (p.Pro1524_Phe1525delinsLeu) c.4631_4633del (p.Pro1544_Phe1545delinsLeu) | ClinVar |
| 17 | g.31261738T>A | CA499233846 | NF1 | c.407T>A (p.Leu136His) c.4587T>A (p.Pro1529=) n.711T>A c.596T>A n.1250T>A c.4635T>A (p.Pro1545=) c.4605T>A (p.Pro1535=) c.4542T>A (p.Pro1514=) c.3540T>A (p.Pro1180=) c.1121T>A c.1058T>A n.3078T>A c.4644T>A (p.Pro1548=) c.4596T>A (p.Pro1532=) c.4572T>A (p.Pro1524=) c.4632T>A (p.Pro1544=) | dbSNP |
| 17 | g.31261738T>C | CA499233847 | NF1 | c.407T>C (p.Leu136Pro) c.4587T>C (p.Pro1529=) n.711T>C c.596T>C n.1250T>C c.4635T>C (p.Pro1545=) c.4605T>C (p.Pro1535=) c.4542T>C (p.Pro1514=) c.3540T>C (p.Pro1180=) c.1121T>C c.1058T>C n.3078T>C c.4644T>C (p.Pro1548=) c.4596T>C (p.Pro1532=) c.4572T>C (p.Pro1524=) c.4632T>C (p.Pro1544=) | dbSNP |
| 17 | g.31261738T>G | CA499233848 | NF1 | c.407T>G (p.Leu136Arg) c.4587T>G (p.Pro1529=) n.711T>G c.596T>G n.1250T>G c.4635T>G (p.Pro1545=) c.4605T>G (p.Pro1535=) c.4542T>G (p.Pro1514=) c.3540T>G (p.Pro1180=) c.1121T>G c.1058T>G n.3078T>G c.4644T>G (p.Pro1548=) c.4596T>G (p.Pro1532=) c.4572T>G (p.Pro1524=) c.4632T>G (p.Pro1544=) | |
| 17 | g.31261741dup | CA2580093294 | NF1 | c.410dup (p.Leu137PhefsTer?) c.4590dup (p.Asp1531Ter) n.714dup c.599dup n.1253dup c.4638dup (p.Asp1547Ter) c.4608dup (p.Asp1537Ter) c.4545dup (p.Asp1516Ter) c.3543dup (p.Asp1182Ter) c.1124dup c.1061dup n.3081dup c.4647dup (p.Asp1550Ter) c.4599dup (p.Asp1534Ter) c.4575dup (p.Asp1526Ter) c.4635dup (p.Asp1546Ter) | ClinVar |
| 17 | g.31261741del | CA2018007658 | NF1 | c.410del (p.Leu137Ter) c.4590del (p.Phe1530LeufsTer?) n.714del c.599del n.1253del c.4638del (p.Phe1546LeufsTer?) c.4608del (p.Phe1536LeufsTer?) c.4545del (p.Phe1515LeufsTer?) c.3543del (p.Phe1181LeufsTer?) c.1124del c.1061del n.3081del c.4647del (p.Phe1549LeufsTer?) c.4599del (p.Phe1533LeufsTer?) c.4575del (p.Phe1525LeufsTer?) c.4635del (p.Phe1545LeufsTer?) | ClinVar dbSNP |
| 17 | g.31261739T>A | CA399000185 | NF1 | c.408T>A (p.Leu136=) c.4588T>A (p.Phe1530Ile) n.712T>A c.597T>A n.1251T>A c.4636T>A (p.Phe1546Ile) c.4606T>A (p.Phe1536Ile) c.4543T>A (p.Phe1515Ile) c.3541T>A (p.Phe1181Ile) c.1122T>A c.1059T>A n.3079T>A c.4645T>A (p.Phe1549Ile) c.4597T>A (p.Phe1533Ile) c.4573T>A (p.Phe1525Ile) c.4633T>A (p.Phe1545Ile) | |
| 17 | g.31261739T>C | CA399000186 | NF1 | c.408T>C (p.Leu136=) c.4588T>C (p.Phe1530Leu) n.712T>C c.597T>C n.1251T>C c.4636T>C (p.Phe1546Leu) c.4606T>C (p.Phe1536Leu) c.4543T>C (p.Phe1515Leu) c.3541T>C (p.Phe1181Leu) c.1122T>C c.1059T>C n.3079T>C c.4645T>C (p.Phe1549Leu) c.4597T>C (p.Phe1533Leu) c.4573T>C (p.Phe1525Leu) c.4633T>C (p.Phe1545Leu) | |
| 17 | g.31261739T>G | CA399000188 | NF1 | c.408T>G (p.Leu136=) c.4588T>G (p.Phe1530Val) n.712T>G c.597T>G n.1251T>G c.4636T>G (p.Phe1546Val) c.4606T>G (p.Phe1536Val) c.4543T>G (p.Phe1515Val) c.3541T>G (p.Phe1181Val) c.1122T>G c.1059T>G n.3079T>G c.4645T>G (p.Phe1549Val) c.4597T>G (p.Phe1533Val) c.4573T>G (p.Phe1525Val) c.4633T>G (p.Phe1545Val) | ClinVar COSMIC COSMIC |
| 17 | g.31261740T>A | CA399000192 | NF1 | c.409T>A (p.Leu137Met) c.4589T>A (p.Phe1530Tyr) n.713T>A c.598T>A n.1252T>A c.4637T>A (p.Phe1546Tyr) c.4607T>A (p.Phe1536Tyr) c.4544T>A (p.Phe1515Tyr) c.3542T>A (p.Phe1181Tyr) c.1123T>A c.1060T>A n.3080T>A c.4646T>A (p.Phe1549Tyr) c.4598T>A (p.Phe1533Tyr) c.4574T>A (p.Phe1525Tyr) c.4634T>A (p.Phe1545Tyr) | |
| 17 | g.31261740T>C | CA399000190 | NF1 | c.409T>C (p.Leu137=) c.4589T>C (p.Phe1530Ser) n.713T>C c.598T>C n.1252T>C c.4637T>C (p.Phe1546Ser) c.4607T>C (p.Phe1536Ser) c.4544T>C (p.Phe1515Ser) c.3542T>C (p.Phe1181Ser) c.1123T>C c.1060T>C n.3080T>C c.4646T>C (p.Phe1549Ser) c.4598T>C (p.Phe1533Ser) c.4574T>C (p.Phe1525Ser) c.4634T>C (p.Phe1545Ser) | ClinVar |
| 17 | g.31261740T>G | CA399000191 | NF1 | c.409T>G (p.Leu137Val) c.4589T>G (p.Phe1530Cys) n.713T>G c.598T>G n.1252T>G c.4637T>G (p.Phe1546Cys) c.4607T>G (p.Phe1536Cys) c.4544T>G (p.Phe1515Cys) c.3542T>G (p.Phe1181Cys) c.1123T>G c.1060T>G n.3080T>G c.4646T>G (p.Phe1549Cys) c.4598T>G (p.Phe1533Cys) c.4574T>G (p.Phe1525Cys) c.4634T>G (p.Phe1545Cys) | |
| 17 | g.31261741T>A | CA399000193 | NF1 | c.410T>A (p.Leu137Ter) c.4590T>A (p.Phe1530Leu) n.714T>A c.599T>A n.1253T>A c.4638T>A (p.Phe1546Leu) c.4608T>A (p.Phe1536Leu) c.4545T>A (p.Phe1515Leu) c.3543T>A (p.Phe1181Leu) c.1124T>A c.1061T>A n.3081T>A c.4647T>A (p.Phe1549Leu) c.4599T>A (p.Phe1533Leu) c.4575T>A (p.Phe1525Leu) c.4635T>A (p.Phe1545Leu) | |
| 17 | g.31261741T>C | CA499233849 | NF1 | c.410T>C (p.Leu137Ser) c.4590T>C (p.Phe1530=) n.714T>C c.599T>C n.1253T>C c.4638T>C (p.Phe1546=) c.4608T>C (p.Phe1536=) c.4545T>C (p.Phe1515=) c.3543T>C (p.Phe1181=) c.1124T>C c.1061T>C n.3081T>C c.4647T>C (p.Phe1549=) c.4599T>C (p.Phe1533=) c.4575T>C (p.Phe1525=) c.4635T>C (p.Phe1545=) | |
| 17 | g.31261741T>G | CA399000194 | NF1 | c.410T>G (p.Leu137Trp) c.4590T>G (p.Phe1530Leu) n.714T>G c.599T>G n.1253T>G c.4638T>G (p.Phe1546Leu) c.4608T>G (p.Phe1536Leu) c.4545T>G (p.Phe1515Leu) c.3543T>G (p.Phe1181Leu) c.1124T>G c.1061T>G n.3081T>G c.4647T>G (p.Phe1549Leu) c.4599T>G (p.Phe1533Leu) c.4575T>G (p.Phe1525Leu) c.4635T>G (p.Phe1545Leu) | |
| 17 | g.31261741_31261744delinsC | CA2499224146 | NF1 | c.410_413delinsC (p.Leu137_Ile138delinsSer) c.4590_4593delinsC (p.Asp1531del) n.714_717delinsC c.599_602delinsC n.1253_1256delinsC c.4638_4641delinsC (p.Asp1547del) c.4608_4611delinsC (p.Asp1537del) c.4545_4548delinsC (p.Asp1516del) c.3543_3546delinsC (p.Asp1182del) c.1124_1127delinsC c.1061_1064delinsC n.3081_3084delinsC c.4647_4650delinsC (p.Asp1550del) c.4599_4602delinsC (p.Asp1534del) c.4575_4578delinsC (p.Asp1526del) c.4635_4638delinsC (p.Asp1546del) | ClinVar dbSNP |
| 17 | g.31261742G>A | CA399000195 | NF1 | c.411G>A (p.Leu137=) c.4591G>A (p.Asp1531Asn) n.715G>A c.600G>A n.1254G>A c.4639G>A (p.Asp1547Asn) c.4609G>A (p.Asp1537Asn) c.4546G>A (p.Asp1516Asn) c.3544G>A (p.Asp1182Asn) c.1125G>A c.1062G>A n.3082G>A c.4648G>A (p.Asp1550Asn) c.4600G>A (p.Asp1534Asn) c.4576G>A (p.Asp1526Asn) c.4636G>A (p.Asp1546Asn) | |
| 17 | g.31261742G>C | CA399000196 | NF1 | c.411G>C (p.Leu137Phe) c.4591G>C (p.Asp1531His) n.715G>C c.600G>C n.1254G>C c.4639G>C (p.Asp1547His) c.4609G>C (p.Asp1537His) c.4546G>C (p.Asp1516His) c.3544G>C (p.Asp1182His) c.1125G>C c.1062G>C n.3082G>C c.4648G>C (p.Asp1550His) c.4600G>C (p.Asp1534His) c.4576G>C (p.Asp1526His) c.4636G>C (p.Asp1546His) | dbSNP COSMIC |
| 17 | g.31261742G= | CA2255577400 | NF1 | c.411G= (p.Leu137=) c.4591G= (p.Asp1531=) n.715G= c.600G= n.1254G= c.4639G= (p.Asp1547=) c.4609G= (p.Asp1537=) c.4546G= (p.Asp1516=) c.3544G= (p.Asp1182=) c.1125G= c.1062G= n.3082G= c.4648G= (p.Asp1550=) c.4600G= (p.Asp1534=) c.4576G= (p.Asp1526=) c.4636G= (p.Asp1546=) | |
| 17 | g.31261742G>T | CA399000197 | NF1 | c.411G>T (p.Leu137Phe) c.4591G>T (p.Asp1531Tyr) n.715G>T c.600G>T n.1254G>T c.4639G>T (p.Asp1547Tyr) c.4609G>T (p.Asp1537Tyr) c.4546G>T (p.Asp1516Tyr) c.3544G>T (p.Asp1182Tyr) c.1125G>T c.1062G>T n.3082G>T c.4648G>T (p.Asp1550Tyr) c.4600G>T (p.Asp1534Tyr) c.4576G>T (p.Asp1526Tyr) c.4636G>T (p.Asp1546Tyr) |